Varaico: Literature-Extracted Genetic Variants

Gene:BMPR1A
Variant:p.R406L
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BMPR1A

NM_004329.3:p.R406L

Associated Papers

Augmentation of bone morphogenetic protein signaling in cranial neural crest cells in mice deforms skull base due to premature fusion of intersphenoidal synchondrosis.

Ueharu H et al.

Genesis (new York, N.y. : 2000), 2023

BMP signaling during craniofacial development: new insights into pathological mechanisms leading to craniofacial anomalies.

Ueharu H et al.

Frontiers in Physiology, 2023

Bone morphogenetic protein receptors: Structure, function and targeting by selective small molecule kinase inhibitors.

Sanchez-Duffhues G et al.

Bone, 2020

Homozygous missense variant in BMPR1A resulting in BMPR signaling disruption and syndromic features.

Russell BE et al.

Molecular Genetics & Genomic Medicine, 2019

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."